ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=)

gnomAD frequency: 0.00001  dbSNP: rs1842926814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417810 SCV001620016 likely benign Adams-Oliver syndrome 5 2022-11-28 criteria provided, single submitter clinical testing

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